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1. Complete dominance A relationship where the heterozygote has the same pheno-
type as the homozygous dominant.
2. Recessive Phenotype is expressed only when both alleles are mutant.
3. Incomplete dominance (semi- A heterozygote shows an intermediate phenotype.
dominant)
4. Codominance Both alleles are expressed in a heterozygote (e.g., ABO blood
types).
5. Haploinsufficient gene One functional allele is not enough for wild-type phenotype
6. Haplosufficient One functional allele is enough.
7. Dominant negative mutation Mutant protein interferes with wild-type protein function
8. Gain-of-function mutation A mutation produces a protein with new or disruptive activity.
9. Recessive lethal Causes death only in homozygotes.
10. Penetrance % of individuals with the genotype that express the pheno-
type
11. Expressivity Degree/intensity of phenotype variation
12. In complete dominance, the Same as homozygous dominant
heterozygote phenotype is
13. A haploinsufficient gene means One functional allele is insufficient
14. Dominant negative mutations Interfere with the WT protein
typically
15. Codominance results in Expression of both alleles
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, BIOS 2500 Exam 2 Study Guide Part 2
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16. Penetrance describes Frequency of phenotype expression
17. Epistasis One gene masks/modifies the effect of another
18. Recessive epistasis A homozygous recessive genotype masks other genes.
19. Upstream gene Acts earlier in the pathway.
20. Downstream gene Acts later in the pathway.
21. Independent pathways Genes affect separate processes ’9:3:3:1 ratio
22. Complementation test Determines if mutations are in the same/different genes
23. Fail to complement Mutations in the same gene.
24. A 9:3:3:1 ratio suggests Independent assortment
25. In a biochemical pathway, the Upstream
epistatic gene is usually
26. Two mutants crossed ’ WT off- Complementation
spring. This indicates
27. Failure to complement means Same gene mutated
28. Supplying a downstream in- Upstream enzyme defective
termediate rescues a mutant
when
29. Semiconservative replication Each daughter's DNA has one old + one new strand
30. Origin of replication Start site for DNA synthesis
31. Leading strand Synthesized continuously
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